BICD2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene.[5][6]

AliasesBICD2, SMALED2, bA526D8.1, BICD cargo adaptor 2, SMALED2B, SMALED2A
End92,764,833 bp[1]
Quick facts Identifiers, Aliases ...
BICD2
Identifiers
AliasesBICD2, SMALED2, bA526D8.1, BICD cargo adaptor 2, SMALED2B, SMALED2A
External IDsOMIM: 609797; MGI: 1924145; HomoloGene: 9070; GeneCards: BICD2; OMA:BICD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015250
NM_001003800

NM_001039179
NM_001039180
NM_029791

RefSeq (protein)

NP_001003800
NP_056065

NP_001034268
NP_001034269
NP_084067

Location (UCSC)Chr 9: 92.71 – 92.76 MbChr 13: 49.5 – 49.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described.[6]

Mutations in BICD2 are associated with spinal muscular atrophy with lower extremity predominance type 2A and type 2B.

References

Further reading

Related Articles

Wikiwand AI